Haemophilia C

Haemophilia C is a rare genetic disorder that affects the blood's ability to clot. It is also known as Factor XI deficiency or Rosenthal syndrome. This condition is caused by a deficiency of a protein called Factor XI, which is necessary for blood clotting.

Symptoms

The symptoms of Haemophilia C can vary greatly among individuals. Some people may have no symptoms, while others may experience severe bleeding. Common symptoms include:

• Nosebleeds
• Bleeding gums
• Easy bruising
• Prolonged bleeding from cuts
• Heavy menstrual bleeding in women
• Bleeding into joints and muscles

Causes

Haemophilia C is caused by mutations in the F11 gene, which provides instructions for making Factor XI. This protein plays a crucial role in the coagulation cascade, a series of chemical reactions that forms blood clots in response to injury. Mutations in the F11 gene reduce the amount or activity of Factor XI, leading to the bleeding problems characteristic of Haemophilia C.

Diagnosis

Diagnosis of Haemophilia C is based on a blood test that measures the amount of Factor XI in the blood. A low level of Factor XI is indicative of Haemophilia C.

Treatment

Treatment for Haemophilia C typically involves replacing the missing Factor XI. This can be done through infusions of plasma or Factor XI concentrate. In some cases, antifibrinolytic drugs may be used to help prevent bleeding.

See also

• Haemophilia A
• Haemophilia B
• Blood clotting disorders

References

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